Linked Data
ClinVar Variation Id:
381737
ClinVar RCV Id:
RCV000424150
dbSNP Id:
rs371900329
ExAC:
10:105218048 C / T
gnomAD v2:
10-105218048-C-T
gnomAD v3:
10-103458291-C-T
gnomAD v4:
10-103458291-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103458291C>T , CM000672.2:g.103458291C>T | GRCh38 |
| NC_000010.10:g.105218048C>T , CM000672.1:g.105218048C>T | GRCh37 |
| NC_000010.9:g.105208038C>T | NCBI36 |
| NG_016855.1:g.5601G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329905.6:c.461G>A MANE Select | ENSP00000329926.6:p.Arg154His | |
| ENST00000329905.5:c.461G>A | ENSP00000329926.5:p.Arg154His | |
| NM_001001412.3:c.461G>A | NP_001001412.3:p.Arg154His | |
| NM_001001412.4:c.461G>A MANE Select | NP_001001412.3:p.Arg154His |